Prenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on Chromosome 9 have associations with low PAPP-A values.

INTRODUCTION: To identify the prevalence and types of fetal chromosomal polymorphisms in pregnant women and to examine possible associations with screening test parameters. MATERIALS AND METHODS: Fetal chromosomal polymorphism rate was investigated in pregnant women who had been implemented for invasive prenatal test in a tertiary reference center in Thrace Region of Turkey. Fetal chromosomal polymorphisms were determined and their effects on screening tests' parameters were investigated. Possible differences in the first and second-trimester screening test parameters between women; with fetal chromosomal polymorphism who had screening test results (Group 1) and those with a normal karyotype (Group 2) were evaluated. RESULTS: Fetal chromosomal polymorphism prevalence was 5.3% (n = 101). The most common polymorphisms were identified on chromosome 9, 1, and 16 [54.5% (n = 55); 8.9% (n = 9), and 6.9% (n = 7), respectively]. The most common polymorphic variant was 9qh+ (n = 23; 22.8%). Among the screening test parameters, significantly lower pregnancy-associated plasma protein-A (PAPP-A) (p = .028) and higher unconjugated estriol (uE3) (p = .019) values were found in Group 1. In patients having fetuses with polymorphic variants on chromosome 9, a significantly lower PAPP-A values were observed compared to women with other fetal polymorphic variants (p = .048) or women having fetuses with normal karyotype (p = .007). CONCLUSIONS: Lower PAPP-A and higher uE3 levels were observed in women having fetuses with chromosomal polymorphisms, which might affect screening test results. Lower PAPP-A levels were apparent in women having fetuses with polymorphism on chromosome 9.

The relation of fetal colon and rectum diameters with labor in healthy late-third trimester pregnancies.

OBJECTIVE: To investigate the associations of fetal colon-rectum diameters with labor and fetal distress or meconium passage in healthy pregnancies in the late 3rd trimester. STUDY DESIGN: A total of 162 healthy, singleton pregnant women at ≥360/7 weeks who were in the latent-phase of labor (n = 69) or those not in labor (n = 93, controls) at the time of ultrasound examination were enrolled. Fetal colon (ascending, transverse, descending, sigmoid) and rectum diameters, Doppler indices of materno-fetal vessels were measured. Data were analyzed according to the mode of delivery. RESULTS: Fetal colon-rectum diameters were smaller in women in labor compared to controls (p = 0.001). Positive correlations were observed between fetal colon-rectum diameters and interval between ultrasound and labor onset in the control group except for those who had scheduled cesarean sections (C/S) (p = 0.001). Similar colon-rectum measurements were obtained in fetuses delivered via cesarean section due to fetal distress or to other indications (p > 0.05). In women who had uterine contractions during ultrasound examination; later delivered by vaginal route, no association was observed between Apgar scores and colon-rectum diameters during latent-phase (p > 0.05), and also there were significant positive correlations between different segments of colon-rectum diameters and duration of neonatal meconium passage (p < 0.05). CONCLUSION: Fetal colon and rectum diameters are smaller during labor and the measurements tend to diminish as the labor approaches, but do not indicate fetal distress.